• Genomics & Informatics
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• 제12권4호
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• pp.236-239
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• 2014

The genetic regulation of glucose and insulin levels might be modified by adiposity. With regard to the genetic factors that are altered by adiposity, a large meta-analysis on the interactions between genetic variants and body mass index with regard to fasting glucose and insulin levels was reported by the Meta-Analyses of Glucose- and Insulin-related trait Consortium (MAGIC), based on European ancestry. Because no replication study has been performed in other ethnic groups, we first examined the link between reported single-nucleotide polymorphisms (SNPs) and fasting glucose and insulin levels in a large Korean cohort (Korean Genome and Epidemiology Study cohort [KoGES], n = 5,814). The MAGIC study reported 7 novel SNPs for fasting glucose levels and 6 novel SNPs for fasting insulin levels. In this study, we attempted to replicate the association of 5 SNPs with fasting glucose levels and 5 SNPs with fasting insulin levels. One SNP (rs2293941) in PDX1 was identified as a significant obesity-modifiable factor in Koreans. Our results indicate that the novel loci that were identified by MAGIC are poorly replicated in other ethnic groups, although we do not know why.

• 대한의생명과학회지
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• 제29권4호
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• pp.355-362
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• 2023

This study aimed to determine whether smoking affects the metabolic syndrome and its components through long-term follow-up. Of the 10,030 cohort subjects in the community-based Korean Genome and Epidemiology Study (KoGES) from 2001 to 2018, 2,848 people with metabolic syndrome and 4,854 people with insufficient data for analysis were excluded for this study. The study population comprised 2,328 individuals (1,123 men, 1,205 women) who were eligible for inclusion. The mean age of the participants was 49.2±7.5 years, and 21.9% were current smoker. In log rank test, current smoker had a significantly higher cumulative incidence of metabolic syndrome compared with non smoker (P<0.001). In the Cox proportional hazards model adjusted for key variables, metabolic syndrome (hazard ratio [HR] 1.57, P<0.001), high fasting glucose (HR 1.40, P<0.01), hypertriglyceridemia (HR 1.60, P<0.001), low HDL-cholesterol (HR, 1.30, P<0.01), and abdominal obesity (HR 1.32, P<0.01) in current smoker compared with non smoker were statistically significant, respectively, but not hypertension (HR 1.00, P>0.05). After adjustment for confounders, the time (P-time<0.001) and group (P-group<0.001) effects on metabolic syndrome score change were statistically significant. Furthermore, the interaction analysis of time and smoking group on the change in metabolic syndrome score was statistically significant (P-interaction<0.001). In long-term follow-up, smoking worsens metabolic syndrome.

• 대한지역사회영양학회지
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• 제12권3호
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• pp.352-360
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• 2007

Several nutrients are known to affect bone mineral density (BMD). However, these nutrients are combined with food intake and dietary patterns and little is known about the association of dietary patterns and BMD. The objective of this study was to investigate the association of dietary patterns with BMD in Korea Genome Epidemiology Study subjects. Among 2,884 women (40-69 yr) recruited at baseline study (2001), 861 subjects with BMD measurements at baseline and a 4-year follow up study (2005) completed the semi-quantitative food frequency questionnaire. BMD was measured by the Quantitative Ultrasound method. One hundred three food items were combined into 17 food groups and 4 dietary patterns were identified by factor analysis. Cluster analysis using factor score classified each subject into one of three dietary pattern groups named 'Rice and kimchi eating' (n = 617), 'Contented eating' (n = 124), and 'Healthy and light eating' (n = 120). The 'Healthy and light eating' group, characterized by higher intake of fruit, vegetables, fish, milk and dairy products, and younger age, more exercise, higher education, and higher income than other groups. The tibia BMD of the 'Healthy and light eating' group was higher than the other groups after adjusting for the age. After the adjustment for the age BMI and exercise, the 'Healthy and light eating' group showed significantly lower odds of tibia osteopenia/osteoporosis risk compared to the 'Rice and kimchi eating' group both at the baseline [OR(95% CI) : 0.50(0.30-0.84)] and follow-up [OR(95% CI) : 0.59(0.36-0.97)] examinations. The dietary pattern with low calorie and high intakes of fruit, vegetables, fish, milk and dairy products may have beneficial effects on BMD in middle-aged women.

• Molecules and Cells
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• 제26권5호
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• pp.459-461
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• 2008

Much research evidence supports the hypothesis that chronic, low-grade inflammation related to innate immunity may play an important role in the pathophysiology of type 2 diabetes mellitus (T2DM). Runt-related transcription factor 2 (RUNX2; MIM# 600211) acts as a scaffold that controls the integration, organization, and assembly of nucleic acids. To examine whether the novel promoter variant in RUNX2 is associated with the risk of T2DM and related phenotypes, RUNX2-742G > T was genotyped in 378 T2DM patients and 382 normal controls recruited in the Korean T2DM Study. Statistical analysis revealed that RUNX2-742G > T was associated with serum triglyceride level (TG) in nondiabetic controls, although it was not associated with the risk of T2DM. Individuals who carry T/T, T/G, and G/G genotypes had the highest ($2.061{\pm}0.20$), intermediate ($2.01{\pm}0.19$), and the lowest ($1.97{\pm}0.18$) levels of log [TG (mmol/l)] (P = 0.007), respectively. Our data on this important variant of RUNX2 suggest that lipid metabolism might be affected by genetic polymorphisms in the promoter region.

• Journal of Preventive Medicine and Public Health
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• 제40권2호
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• pp.95-101
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• 2007

Focusing on complex diseases of public health significance, strategic issues regarding the on-going Korean Genome Cohort were reviewed: target size and diseases, measurements, study design issues, and follow-up strategy of the cohort. Considering the epidemiologic characteristics of Korean population as well as strengths and drawbacks of current research environment, we tried to tailor the experience of other existing cohorts into proposals for this Korean study. Currently 100,000 individuals have been participating the new Genome Cohort in Korea. Target size of de novo collection is recommended to be set as between 300,000 to 500,000. This target size would allow acceptable power to detect genetic and environmental factors of moderate effect size and possible interactions between them. Family units and/or special subgroups are recommended to parallel main body of adult individuals to increase the overall efficiency of the study. Given that response rate to the conventional re-contact method may not be satisfactory, successful follow-up is the main key to the achievement of the Korean Genome Cohort. Access to the central database such as National Health Insurance data can provide enormous potential for near-complete case detection. Efforts to build consensus amongst scientists from broad fields and stakeholders are crucial to unleash the centralized database as well as to refine the commitment of this national project.

• Asian-Australasian Journal of Animal Sciences
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• 제23권4호
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• pp.417-424
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• 2010

The purpose of this study was to detect significant SNPs for carcass quality traits using DNA chips of high SNP density in Hanwoo populations. Carcass data of two hundred and eighty nine steers sired by 30 Korean proven sires were collected from two regions; the Hanwoo Improvement Center of National Agricultural Cooperative Federation in Seosan, Chungnam province and the commercial farms in Gyeongbuk province. The steers in Seosan were born between spring and fall of 2006 and those in Gyeonbuk between falls of 2004 and 2005. The former steers were slaughtered at approximately 24 months, while the latter steers were fed six months longer before slaughter. Among the 55,074 SNPs in the Illumina bovine 50K chip, a total of 32,756 available SNPs were selected for whole genome association study. After adjusting for the effects of sire, region and slaughter age, phenotypes were regressed on each SNP using a simple linear regression model. For the significance threshold, 0.1% point-wise p value from F distribution was used for each SNP test. Among the significant SNPs for a trait, the best set of SNP markers were selected using a stepwise regression procedure, and inclusion and exclusion of each SNP out of the model was determined at the p<0.001 level. A total of 118 SNPs were detected; 15, 20, 22, 28, 20, and 13 SNPs for final weight before slaughter, carcass weight, backfat thickness, weight index, longissimus dorsi muscle area, and marbling score, respectively. Among the significant SNPs, the best set of 44 SNPs was determined by stepwise regression procedures with 7, 9, 6, 9, 7, and 6 SNPs for the respective traits. Each set of SNPs per trait explained 20-40% of phenotypic variance. The number of detected SNPs per trait was not great in whole genome association tests, suggesting additional phenotype and genotype data are required to get more power to detect the trait-related SNPs with high accuracy for estimation of the SNP effect. These SNP markers could be applied to commercial Hanwoo populations via marker-assisted selection to verify the SNP effects and to improve genetic potentials in successive generations of the Hanwoo populations.

• Genomics & Informatics
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• 제8권3호
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• pp.101-102
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• 2010

During the last decade, large community cohorts have been established by the Korea National Institutes of Health (KNIH), and enormous epidemiological and clinical data have been accumulated. Using these information and samples in the cohorts, KNIH set out to do a large-scale genome-wide association study (GWAS) in 2007, and the Korea Association REsource (KARE) consortium was launched to analyze the data to identify the underlying genetic risk factors of diseases and diverse health indexes, such as blood pressure, obesity, bone density, and blood biochemical traits. The consortium consisted of 6 research divisions, formed by 25 principal investigators in 19 organizations, including 18 universities, 2 institutes, and 1 company. Each division focused on one of the following subjects: the identification of genetic factors, the statistical analysis of gene-gene interactions, the genetic epidemiology of gene-environment interactions, copy number variation, the bioinformatics related to a GWAS, and a GWAS of nutrigenomics. In this special issue, the study results of the KARE consortium are provided as 9 articles. We hope that this special issue might encourage the genomics community to share data and scientists, including clinicians, to analyze the valuable Korean data of KARE.

• Molecules and Cells
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• 제23권3호
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• pp.379-390
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• 2007

We sequenced and characterized the complete mitochondrial genome of the Japanese fish tapeworm D. nihonkaiense. The genome is a circular-DNA molecule of 13607 bp (one nucleotide shorter than that of D. latum mtDNA) containing 12 protein-coding genes (lacking atp8), 22 tRNA genes and two rRNA genes. Gene order and genome content are identical to those of the other cestodes reported thus far, including its congener D. latum. The only exception is Hymenolepis diminuta in which the positions of trnS2 and trnL1 are switched. We tested a PCR-based molecular assay designed to rapidly and accurately differentiate between D. nihonkaiense and D. latum using species-specific primers based on a comparison of their mtDNA sequences. We found the PCR-based system to be very reliable and specific, and suggest that PCR-based identification methods using mtDNA sequences could contribute to the study of the epidemiology and larval ecology of Diphyllobothrium species.

• 미생물학회지
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• 제54권3호
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• pp.188-199
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• 2018

다양한 미생물학 연구 분야의 발전에 힘입어 유전체역학은 발전되어 왔다. 예를 들어, 대용량서열화 기술의 발전으로 미생물 유전체의 수는 급속도로 증가해 오고 있다. 이러한 풍부한 유전체 데이터는 전에는 보지 못한 보다 더 정확한 미생물종의 동정에 도움을 주는 균주종 타이핑에 새로운 기회를 제공한다. 유전체역학은 유전체에 일반적인 유전자를 찾고 표기하는 것 뿐만 아니라 항균 저항성 유전자를 찾을 수 있다. 균주종 타이핑과 항균 저항성 유전자 찾기는 각각 종을 구분하고 유전체내의 유전자 위치를 결정하는 유전체 역학의 방법들로 시간에 따른 변화가 없는 측면이다. 이에 반하여, 하나의 숙주가 어떤 숙주를 감염시켰는지 알아내기 위해서는 감염된 숙주들 사이의 시간에 따른 동적인 전염 경로를 추론해야 한다. 이렇게, 균주종 타이핑, 항균 저항성 유전자 찾기, 전염 계통수 추론을 통하여 유전체역학의 궁극적인 목표 중 하나인 미생물성 전염병을 보다 효율적으로 감시할 수 있을 것으로 기대된다. 그리고, 대용량서열화 기술 중, 3세대 서열화기술 중 하나인 옥스포드 나노포어 MinION의 보다 나은 휴대성과 빠른 서열화의 성능 덕분에 유전체역학은 더 많은 발전을 거듭할 것으로 보인다. 이에, 본 연구는 항균 저항성 유전자를 찾고 전염병 경로를 추론하는 계산적인 방법에 대하여 살펴보고, 미생물 유전체역학에서 MinION이 응용된 예들에 대하여 논하였다.

• BMB Reports
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• 제43권12호
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• pp.830-835
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• 2010

Epigenetic modification of the genome through DNA methylation is the key to maintaining the differentiated state of human embryonic stem cells (hESCs), and it must be reset during differentiation by retinoic acid (RA) treatment. A genome-wide methylation/gene expression assay was performed in order to identify epigenetic modifications of RA-treated hESCs. Between undifferentiated and RA-treated hESCs, 166 differentially methylated CpG sites and 2,013 differentially expressed genes were discovered. Combined analysis of methylation and expression data revealed that 19 genes (STAP2, VAMP8, C10orf26, WFIKKN1, ELF3, C1QTNF6, C10orf10, MRGPRF, ARSE, LSAMP, CENTD3, LDB2, POU5F1, GSPT2, THY1, ZNF574, MSX1, SCMH1, and RARB) were highly correlated with each other. The results provided in this study will facilitate future investigations into the interplay between DNA methylation and gene expression through further functional and biological studies.